EME1 Gene

Name	essential meiotic structure-specific endonuclease 1
Description	This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n EME1 is a critical regulatory subunit that partners with MUS81 to form a structure‐specific endonuclease complex central to the processing of aberrant DNA structures during genome maintenance. In complex with MUS81, EME1 contributes to the cleavage of various branched DNA intermediates—including 3′ flaps, nicked Holliday junctions, and stalled replication forks—that arise in contexts such as double‐strand break repair, interstrand crosslink repair, and fork restart. The MUS81–EME1 complex is assembled into higher order repair scaffolds by factors such as SLX4, facilitating coordinated processing of recombination intermediates and promoting proper cell cycle progression in response to replication stress."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, regulatory pathways modulate MUS81–EME1 activity to maintain genomic integrity. For example, cell cycle checkpoints governed by proteins like Wee1 and CHK1 rely on MUS81–EME1 activity to generate and resolve DNA double‐strand breaks that signal repair or trigger arrest when replication forks are compromised."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": " In BRCA2‐deficient cells, the nuclease activity provided by the MUS81–EME1 complex is essential for the safe progression of replication forks and proper resolution of mitotic DNA interlinks, thereby preventing genome instability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, under conditions of chronic replication stress, factors such as the FBH1 helicase appear to collaborate with MUS81–EME1 to mediate endonucleolytic cleavage of stalled forks, further highlighting the complex’s role in regulating replication-associated DNA damage."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Notably, viral proteins such as HIV-1 Vpr have evolved to target this nuclease complex—downregulating both MUS81 and EME1 via hijacking of host ubiquitin ligases—thereby impacting cell cycle transitions and the DNA damage response independently of other repair cofactors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jennifer M Svendsen, Agata Smogorzewska, Mathew E Sowa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.06.030"}], "href": "https://doi.org/10.1016/j.cell.2009.06.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19596235"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19596235"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Samira Fekairi, Sarah Scaglione, Charly Chahwan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.06.029"}], "href": "https://doi.org/10.1016/j.cell.2009.06.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19596236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19596236"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nadine Laguette, Christelle Brégnard, Pauline Hue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Premature activation of the SLX4 complex by Vpr promotes G2/M arrest and escape from innate immune sensing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2013.12.011"}], "href": "https://doi.org/10.1016/j.cell.2013.12.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24412650"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24412650"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Raquel Domínguez-Kelly, Yusé Martín, Stephane Koundrioukoff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Wee1 controls genomic stability during replication by regulating the Mus81-Eme1 endonuclease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201101047"}], "href": "https://doi.org/10.1083/jcb.201101047"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21859861"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21859861"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Josep V Forment, Melanie Blasius, Ilaria Guerini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structure-specific DNA endonuclease Mus81/Eme1 generates DNA damage caused by Chk1 inactivation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0023517"}], "href": "https://doi.org/10.1371/journal.pone.0023517"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21858151"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21858151"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Xianning Lai, Ronan Broderick, Valérie Bergoglio, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MUS81 nuclease activity is essential for replication stress tolerance and chromosome segregation in BRCA2-deficient cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms15983"}], "href": "https://doi.org/10.1038/ncomms15983"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28714477"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28714477"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kasper Fugger, Wai Kit Chu, Peter Haahr, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FBH1 co-operates with MUS81 in inducing DNA double-strand breaks and cell death following replication stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms2395"}], "href": "https://doi.org/10.1038/ncomms2395"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23361013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23361013"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiaohong Zhou, Maria DeLucia, Jinwoo Ahn "}, {"type": "b", "children": [{"type": "t", "text": "SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein by HIV-1 Viral Protein R (Vpr)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M116.721183"}], "href": "https://doi.org/10.1074/jbc.M116.721183"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27354282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27354282"}]}]}]}
Synonyms	MMS4L, SLX2A
Proteins	EME1_HUMAN
NCBI Gene ID	146956
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EME1 has 5,979 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 107 datasets.

Click the + buttons to view associations for EME1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EME1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by EME1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of EME1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of EME1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of EME1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of EME1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of EME1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of EME1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of EME1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of EME1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of EME1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of EME1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with EME1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of EME1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EME1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of EME1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing EME1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EME1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing EME1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing EME1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EME1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with EME1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of EME1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EME1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with EME1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with EME1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of EME1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by EME1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with EME1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with EME1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with EME1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at EME1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of EME1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of EME1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing EME1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with EME1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with EME1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing EME1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of EME1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of EME1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of EME1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.